A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365561



Internal ID22591230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57501427..57501561hg38UCSC Ensembl
chr12:57895210..57895344hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944345
Supporting Variants
Samples
Known GenesMARS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365561
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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